A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053377



Internal ID19142596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..20538504hg38UCSC Ensembl
Innerchr15:20395517..20743782hg19UCSC Ensembl
Innerchr15:18655531..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38348241
hg19348266
hg18348266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2206n100
Supporting Variantsnssv3538017
Samples
Known GenesCHEK2P2, GOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053377
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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